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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: Eur J Med Genet. 2016 Aug 31;59(10):540–545. doi: 10.1016/j.ejmg.2016.08.012

Figure 3.

Figure 3

Sequencing shows a POLG2 homozygous missense variant. (A) Pile-up of the reads from Next-Gen sequencing shows the homozygous c.544C>T (G>A in the genomic complementary sequence), p.R182W variant. The variant is highlighted in green. (B) Sanger sequencing of variant (Reference sequence (Ref), patient (P), mother (M) and father (F)). The red arrow points to the nucleotide with the homozygous (C>T) substitution in the patient and heterozygous variant in both parents.